Cytogenetic Laboratory Services

The Prenatal Diagnosis Center also includes a clinical cytogenetics laboratory. The laboratory provides prompt, efficient diagnosis of chromosome-related disorders.

Genetic Diseases Screening

Around the world distinct ethnic groups are known to have an increased risk for genetic diseases. For example, special tests are usually ordered for genetic diseases that are often found in people of Eastern European (Ashkenazi) Jewish decent. These genetic screening and many more offered at the Prenatal Diagnosis Center and your risk for these inherited diseases will be discussed with you.

Cystic fibrosis is a chronic disorder that primarily involves the respiratory, digestive and reproductive systems. Symptoms include pneumonia, diarrhea, poor growth and infertility. Some people are only mildly affected but individuals with severe disease may die in childhood. The average lifespan today is 32 years, but may improve as scientists search for better treatments. CF does not affect intelligence.

Tay-Sachs disease is caused by an enzyme deficiency that allows a harmful substance to build up in the brain in which the condition of the nerves grows worse over time. Symptoms first at about the age of six months and death will usually occur by five to eight years of age.

Canavan disease is a disorder which causes brain and nervous system degeneration. Symptoms include slow growth, poor muscle control, and a large head. Individuals with Canavan disease usually die in early childhood. At this time there is no treatment.

Family dysautonomia is a nervous system disorder that causes vomiting, sweating, decreased pain sensibility, and unstable blood pressure or temperature. Individuals often have normal intelligence but may have learning disabilities. Only 50% of affected individuals will reach the age 30.

Bloom syndrome causes poor growth, poor immune system function and a high rate of cancer. Individuals with Bloom syndrome usually die from cancer before age 30. Bloom syndrome does not affect intelligence.

Falconi anemia group C is a disease that causes anemia, short stature and, oftentimes, abnormalities of the heart, kidneys or limbs. Some individuals have learning disabilities or mental retardation. Patients have a high rate of cancer, especially leukemia.

Gaucher disease is caused by an enzyme deficiency. Symptoms are variable and may include fatigue, enlarged liver and spleen, easy bruising and bleeding, bone pain and fractures. The most common form of Gaucher disease is treatable by enzyme replacement therapy. In the most severe form, which occurs less frequently, the brain and nervous system are also involved.

Maple syrup urine disease is a disorder which causes certain amino acids to accumulate in the blood. The disease name refers to the characteristic odor of the urine. Without diagnosis and treatment, classis MSUD leads to mental retardation, physical disabilities, seizures and death. Treatment consists of a strict, lifelong special diet to attempt to control the accumulation of amino acids in the blood.

Mucholpidosis type IV affects the brain and nervous system. Symptoms begin in the first year of life, resulting in mental and physical retardation, and impaired vision. At this time there is no treatment.

Niemann -Pick disease type A causes poor growth enlarged liver, and mental and physical deterioration. Individuals with Niemann-Pick disease type A usually die by age four. At this time there is no treatment.

Sickle Cell Disease (SCD) is caused by the malfunction of the red blood cells causing a very severe form of anemia. It is estimated that sickle cell disease effects 1 of every 1,300 infants in the general population and approximately 1 of every 400 of African descent. Untreated newborns often develop septicemia, an infection of the blood, and die within a few weeks of birth. Even though there is no cure for sickle cell disease, it is treated by taking folic acid and penicillin throughout the life of the affected individual.

Thalassemia consists of a group of inherited diseases of the blood. About 100,000 babies worldwide are born with severe forms of the disease each year. Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African ancestry. The most severe form of alpha thalassemia results in fetal or newborn death. Most individuals with alpha thalassemia have milder forms of the disease with varying degrees of anemia.